ALDH1A2
位於15號人類染色體的基因
醛脱氢酶1家族成员A2(英語:Aldehyde dehydrogenase 1 family, member A2),简称为ALDH1A2,或称为视黄醛脱氢酶2(简写为RALDH2),是在人体内一种由ALDH1A2基因编码的酶。[5][6]此蛋白为醛脱氢酶蛋白家族成员,是负责催化视黄酸到视黄醛的合成的酶。视黄酸是维生素A(即视黄醇)的活性衍生物,是一种旁分泌激素信号分子,主要作用于发育中的组织和成年组织中。[7]对小鼠中类似基因的研究表明,这种酶和细胞色素CYP26A1同时确立局部胚胎组织中的视黄酸浓度,促进后部器官发育和防止脊柱裂。ALDH1A2基因已确认有三种可编码不同亚型蛋白的转录变异体。[6]
参考文献
编辑- ^ 1.0 1.1 1.2 GRCh38: Ensembl release 89: ENSG00000128918 - Ensembl, May 2017
- ^ 2.0 2.1 2.2 GRCm38: Ensembl release 89: ENSMUSG00000013584 - Ensembl, May 2017
- ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ TAL1 and LIM-Only Proteins Synergistically Induce Retinaldehyde Dehydrogenase 2 Expression in T-Cell Acute Lymphoblastic Leukemia by Acting as Cofactors for GATA3. Mol Cell Biol. Dec 1998, 18 (12): 6939–50. PMC 109277 . PMID 9819382.
- ^ 6.0 6.1 Entrez Gene: ALDH1A2 aldehyde dehydrogenase 1 family, member A2.
- ^ Duester G. Retinoic Acid Synthesis and Signaling during Early Organogenesis. Cell. September 2008, 134 (6): 921–31. PMC 2632951 . PMID 18805086. doi:10.1016/j.cell.2008.09.002.
拓展阅读
编辑- Human ALDH1A2 genome location and ALDH1A2 gene details page in the UCSC Genome Browser.
- Wang X, Penzes P, Napoli JL. Cloning of a cDNA encoding an aldehyde dehydrogenase and its expression in Escherichia coli. Recognition of retinal as substrate. J. Biol. Chem. 1996, 271 (27): 16288–93. PMID 8663198. doi:10.1074/jbc.271.27.16288.
- Zhao D, McCaffery P, Ivins KJ, 等. Molecular identification of a major retinoic-acid-synthesizing enzyme, a retinaldehyde-specific dehydrogenase. Eur. J. Biochem. 1996, 240 (1): 15–22. PMID 8797830. doi:10.1111/j.1432-1033.1996.0015h.x.
- Niederreither K, Subbarayan V, Dollé P, Chambon P. Embryonic retinoic acid synthesis is essential for early mouse post-implantation development. Nat. Genet. 1999, 21 (4): 444–8. PMID 10192400. doi:10.1038/7788.
- Niederreither K, Abu-Abed S, Schuhbaur B, 等. Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development. Nat. Genet. 2002, 31 (1): 84–8. PMID 11953746. doi:10.1038/ng876.
- Strausberg RL, Feingold EA, Grouse LH, 等. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899.
- Ota T, Suzuki Y, Nishikawa T, 等. Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. 2004, 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285.
- Anderson NL, Polanski M, Pieper R, 等. The human plasma proteome: a nonredundant list developed by combination of four separate sources(页面存档备份,存于互联网档案馆) (PDF). Mol. Cell. Proteomics. 2004, 3 (4): 311–26. PMID 14718574. doi:10.1074/mcp.M300127-MCP200.
- Gerhard DS, Wagner L, Feingold EA, 等. The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC). Genome Res. 2004, 14 (10B): 2121–7. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504.
- Deak KL, Dickerson ME, Linney E, 等. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Res. Part a Clin. Mol. Teratol. 2006, 73 (11): 868–75. PMID 16237707. doi:10.1002/bdra.20183.
- Ribes V, Wang Z, Dollé P, Niederreither K. Retinaldehyde dehydrogenase 2 (RALDH2)-mediated retinoic acid synthesis regulates early mouse embryonic forebrain development by controlling FGF and sonic hedgehog signaling. Development. 2006, 133 (2): 351–61. PMID 16368932. doi:10.1242/dev.02204.